C671S (p.Cys671Ser) variant of ITGB4 (Integrin beta-4)
C671S (p.Cys671Ser) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Junctional epidermolysis bullosa with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C671S (p.Cys671Ser) variant details
- p.Cys671Ser
- rs2061001234
- ClinGen CA401058162
- ClinVar RCV001352877
- Ensembl rs2061001234
- Pathogenic
- Junctional epidermolysis bullosa with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Junctional epidermolysis bullosa with pyloric atresia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Epidermolysis Bullosa with Pyloric Atresia. (PMID 20301336)